About Koolen-De Vries syndrome

What is Koolen-De Vries syndrome?

Koolen-De Vries syndrome (KDVS) is a rare genetic disorder caused by a mutation in the KANSL1 gene. It is characterized by intellectual disability, developmental delays, and physical abnormalities such as facial dysmorphism, cardiac defects, and skeletal malformations. It is estimated to affect 1 in 16,000 to 25,000 individuals worldwide.

What are the symptoms of Koolen-De Vries syndrome?

The most common symptoms of Koolen-De Vries syndrome include:

-Developmental delay
-Intellectual disability
-Speech delay
-Seizures
-Behavioral problems
-Growth delays
-Feeding difficulties
-Heart defects
-Kidney abnormalities
-Hearing loss
-Vision problems
-Cleft lip and/or palate
-Abnormalities of the hands and feet
-Gastrointestinal problems
-Sleep disturbances

What are the causes of Koolen-De Vries syndrome?

Koolen-De Vries syndrome is caused by a genetic mutation in the KANSL1 gene. This gene is responsible for producing a protein that helps regulate the development of the brain. The mutation in this gene can cause a wide range of physical and cognitive symptoms.

What are the treatments for Koolen-De Vries syndrome?

The treatments for Koolen-De Vries syndrome vary depending on the individual and the severity of the condition. Treatment may include physical therapy, occupational therapy, speech therapy, and special education services. Medications may be prescribed to help manage seizures, anxiety, and other symptoms. Surgery may be recommended to correct physical abnormalities. Other treatments may include dietary modifications, vitamin and mineral supplements, and genetic counseling.

What are the risk factors for Koolen-De Vries syndrome?

1. Mutation in the KANSL1 gene
2. Family history of Koolen-De Vries syndrome
3. Being a male
4. Being of European descent
5. Having a mother over the age of 35 at the time of conception

Is there a cure/medications for Koolen-De Vries syndrome?

At this time, there is no cure for Koolen-De Vries syndrome. However, there are medications and therapies that can help manage the symptoms of the condition. These include medications to help with seizures, physical and occupational therapy to help with motor skills, speech therapy to help with communication, and behavioral therapy to help with social skills.